Treatable Intellectual Disability

an interactive tool for the clinician

Table 1. Definitions & Remarks for Therapy Buttons (button name: Definitions)
Sick day management: intervention(s) to guarantee sufficient fluid and caloric intake to maintain anabolic state, plus continuation / modification of disease specific therapy.
Levels of Evidence: For the Levels of Evidence we took the ‘Oxford Centre for Evidence Based Medicine Levels of Evidence 2009’ approach in ‘best available’ fashion to the relevant peer-reviewed literature. For the elaborate definition of levels of evidence click here
Clinical Paractice: Treatment is initiated either as: Standard of Care: a formal treatment process a physician will follow for a patient with a specific illness, which experts generally accept as ‘best clinical practice’. On an Individual (Patient) Basis: i.e. a combination of patient characteristics (e.g. disease stage, Loes Score for X-linked Adrenoleukodystrophy), physician’s opinion, availability of treatment, potential side-effects.
Therapeutic Effect & Outcomes: A therapy potentially: improve psychomotor / cognitive development / IQ and/or improves behaviour and/or prevents acute metabolic decompensation and/or prevents, halts, or slows clinical deterioration and/or improves neurological manifestations (incl. neuro-imaging) and/or improves seizure / epilepsy control and/or improves systemic manifestations
Literature Reources: Given the limited space available in printed journals, it was not possible to generate a comprehensive list of references relevant for each treatable IEM. We aimed to provide comprehensive overview articles for each, on general aspects of the disease as well as treatment specifics. Aside from these references, valuable other information sources with the opportunity to search per IEM include: GeneReviews ( OMIM Online Mendelian Inheritance in Man (; the textbook ‘Metabolic and Molecular Bases of Inherited Disease’ (Valle D, Volumes I-IV) as well as online version (; and finally the textbook ‘Inborn Metabolic Diseases: Diagnosis and Treatment’ (Fernandes J et al, 4th Ed, Heidelberg).
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